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Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.

Seah C., Levy M.A., Jiang Y., Mokhtarzada S., Higgs D.R., Gibbons R.J., Berube N.G.

J. Neurosci. 28:12570-12580(2008) · Mapped (61)

Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.

dos Santos C.O., Zhou S., Secolin R., Wang X., Cunha A.F., Higgs D.R., Kwiatkowski J.L., Thein S.L., Gallagher P.G., Costa F.F. et al.

Am. J. Hematol. 83:103-108(2008) · Mapped (2)

Tissue-specific histone modification and transcription factor binding in alpha globin gene expression.

De Gobbi M., Anguita E., Hughes J., Sloane-Stanley J.A., Sharpe J.A., Koch C.M., Dunham I., Gibbons R.J., Wood W.G., Higgs D.R.

Blood 110:4503-4510(2007) · Mapped (2)

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX.

Argentaro A., Yang J.C., Chapman L., Kowalczyk M.S., Gibbons R.J., Higgs D.R., Neuhaus D., Rhodes D.

Proc. Natl. Acad. Sci. U.S.A. 104:11939-11944(2007) · UniProtKB (1) · Mapped (7)

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.

Muers M.R., Sharpe J.A., Garrick D., Sloane-Stanley J., Nolan P.M., Hacker T., Wood W.G., Higgs D.R., Gibbons R.J.

Am. J. Hum. Genet. 80:1138-1149(2007) · Mapped (16)

Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence.

Wallace H.A., Marques-Kranc F., Richardson M., Luna-Crespo F., Sharpe J.A., Hughes J., Wood W.G., Higgs D.R., Smith A.J.

Cell 128:197-209(2007) · Mapped (1)

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

De Gobbi M., Viprakasit V., Hughes J.R., Fisher C., Buckle V.J., Ayyub H., Gibbons R.J., Vernimmen D., Yoshinaga Y., de Jong P. et al.

Science 312:1215-1217(2006) · UniProtKB (7)

Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues.

Garrick D., Sharpe J.A., Arkell R., Dobbie L., Smith A.J., Wood W.G., Higgs D.R., Gibbons R.J.

PLoS Genet. 2:e58-e58(2006) · Mapped (21)

Coregulated human globin genes are frequently in spatial proximity when active.

Brown J.M., Leach J., Reittie J.E., Atzberger A., Lee-Prudhoe J., Wood W.G., Higgs D.R., Iborra F.J., Buckle V.J.

J. Cell Biol. 172:177-187(2006) · Mapped (39)

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.

Berube N.G., Mangelsdorf M., Jagla M., Vanderluit J., Garrick D., Gibbons R.J., Higgs D.R., Slack R.S., Picketts D.J.

J. Clin. Invest. 115:258-267(2005) · Mapped (18)

Somatic point mutations in RUNX1/CBFA2/AML1 are common in high-risk myelodysplastic syndrome, but not in myelofibrosis with myeloid metaplasia.

Steensma D.P., Gibbons R.J., Mesa R.A., Tefferi A., Higgs D.R.

Eur. J. Haematol. 74:47-53(2005) · Mapped (4)

Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2.

Anguita E., Hughes J., Heyworth C., Blobel G.A., Wood W.G., Higgs D.R.

EMBO J. 23:2841-2852(2004) · Mapped (5)

Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia.

Viprakasit V., Tanphaichitr V.S., Chinchang W., Sangkla P., Weiss M.J., Higgs D.R.

Blood 103:3296-3299(2004) · Mapped (2)

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Steensma D.P., Higgs D.R., Fisher C.A., Gibbons R.J.

Blood 103:2019-2026(2004) · Mapped (8)

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

Gibbons R.J., Pellagatti A., Garrick D., Wood W.G., Malik N., Ayyub H., Langford C., Boultwood J., Wainscoat J.S., Higgs D.R.

Nat. Genet. 34:446-449(2003) · UniProtKB (1) · Mapped (7)

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease.

Tufarelli C., Stanley J.A., Garrick D., Sharpe J.A., Ayyub H., Wood W.G., Higgs D.R.

Nat. Genet. 34:157-165(2003) · Mapped (2)

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype.

Anguita E., Sharpe J.A., Sloane-Stanley J.A., Tufarelli C., Higgs D.R., Wood W.G.

Blood 100:3450-3456(2002) · Mapped (3)

Clinical phenotypes and molecular characterization of Hb H-Pakse disease.

Viprakasit V., Tanphaichitr V.S., Pung-Amritt P., Petrarat S., Suwantol L., Fisher C., Higgs D.R.

Haematologica 87:117-125(2002) · Mapped (2)

Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.

Tufarelli C., Frischauf A.-M., Hardison R., Flint J., Higgs D.R.

Genomics 71:307-314(2001) · UniProtKB (1) · Mapped (1)

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster.

Flint J., Tufarelli C., Peden J., Clark K., Daniels R.J., Hardison R., Miller W., Philipsen S., Tan-Un K.C., McMorrow T. et al.

Hum. Mol. Genet. 10:371-382(2001) · UniProtKB (23)

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J. et al.

Hum. Mol. Genet. 10:339-352(2001) · UniProtKB (91)

Localization, expression and genomic structure of the gene encoding the human serine protease testisin.

Hooper J.D., Bowen N., Marshall H., Cullen L.M., Sood R., Daniels R., Stuttgen M.A., Normyle J.F., Higgs D.R., Kastner D.L. et al.

Biochim. Biophys. Acta 1492:63-71(2000) · UniProtKB (1)

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

McDowell T.L., Gibbons R.J., Sutherland H., O'Rourke D.M., Bickmore W.A., Pombo A., Turley H., Gatter K., Picketts D.J., Buckle V.J. et al.

Proc. Natl. Acad. Sci. U.S.A. 96:13983-13988(1999) · UniProtKB (2)

Human ARHGDIG, a GDP-dissociation inhibitor for Rho proteins: genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3.

Adra C.N., Iyengar A.R., Syed F.A., Kanaan I.N., Rilo H.L.R., Yu W., Kheraj R., Lin S.R., Horiuchi T., Khan S. et al.

Genomics 53:104-109(1998) · UniProtKB (1)

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.

Picketts D.J., Tastan A.O., Higgs D.R., Gibbons R.J.

Mamm. Genome 9:400-403(1998) · UniProtKB (1) · Mapped (8)

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